The Important Role of Rearrangements, Duplications, and Deletions of BRCA1 and BRCA2 – Part 2

(This is the second part of a series that began with a previous post – “The Important Role of Rearrangements, Duplications, and Deletions of BRCA1 and BRCA2“.) In Part 1 of this series, we provided an introduction to the role that large rearrangements of the BRCA1 and BRCA2 genes play in Hereditary Breast and Ovarian [...]

The Important Role of Rearrangements, Duplications, and Deletions of BRCA1 and BRCA2

(this is the 1st part of a 7 part series) The Hereditary Breast and Ovarian Cancer risk genes, BRCA1 and BRCA2, are the most important genetic risk factors known for breast and ovarian cancer.  Individuals with a disease-associated mutation in one of these genes have markedly elevated breast cancer and ovarian cancer risks.  The identification [...]

More on Triple-Negative Breast Cancer and BRCA1 Mutations: This Time from Greece

A Greek study provides further evidence that we must seriously consider testing for BRCA1 mutations in all triple-negative breast cancer patients under the age of 50 regardless of family history.

New Evidence Supports BRCA1 Testing for All Women with Triple-Negative Breast Cancer Diagnosed Before Age 50

If you were diagnosed with triple-negative breast cancer before age 50, your chance of having a BRCA1 mutation is likely ~20%

RAD51D – A New Hereditary Ovarian Cancer Gene With Important Implications

If you have a compelling family history of ovarian cancer that is not explained by a mutation in the BRCA1 or BRCA2 gene, it is possible that a mutation in the RAD51D gene could be the explanation.

New BRCA1 Single Molecule Sequencing Method Published

We just mentioned at BRCAscoop that a new paper in Genome Research from Helicos reports a new single molecule sequencing strategy for the BRCA1 gene that is discussed in a way that could leave one wondering whether they think they have a workaround for existing intellectual property.  It may be important that their single molecule [...]

New Financial Assistance Program for Young Women with BRCA1 and BRCA2 Mutations Needing Help Paying for Screening Breast MRI

In a previous post we mentioned a Christina Applegate appearance on Oprah to discuss both learning that she (Ms. Applegate) had Hereditary Breast and Ovarian Cancer risk due to a BRCA1 mutation and the aftermath. Since then, The Christina Applegate Foundation has worked to promote awareness of the importance of breast MRI screening for high-risk women. However, one key impediment for some women is the cost of MRI. Now, Right Action for Women is doing something to address this problem.

More on the Woman Who Filed an EEOC Complaint Claiming She Was Fired Over a Genetic Test Revealing a BRCA2 Mutation

The internet is abuzz with all kinds of information related to the case that we discussed yesterday here inovolving a Connecticut woman, Pamela Fink, who has filed a complaint with the EEOC and others alleging genetic discrimination under GINA (Genetic Information Nondiscrimination Act) . She states that her former employer, MXenergy, fired her because of a genetic test that revealed that she carried a mutation in the BRCA2 gene, which confers very high lifetime risks of breast and ovarian cancer.
Video is beginning to emerge (thanks to Nature News for pointing us in this direction) with more information about the case.

Myriad Genetics Has Raised The Price for BRCA1 and BRCA2 Testing: North of $4,000 Now

The Yale Cancer Genetic Counseling blog notes that on April 1, Myriad reportedly raised the full price for full sequencing and rearrangement testing of the BRCA1 and BRCA2 genes to $4,040 (from $3,770).

Woman Files Complaint Claiming She Was Fired Over Positive BRCA2 Test for Hereditary Breast and Ovarian Cancer

In one of the first complaints filed related to the Genetic Insurance Nondiscrimination Act, a Connecticut woman has filed complaints with the U.S. Equal Opportunity Commission and the Connecticut Commission on Human Rights and Opportunities. According to the Boston Herald, Pamela Fink, 39, of Fairfield, Connecticut, alleges that her employer, MXenergy fired her after she disclosed to them that she had a mutation in the BRCA2 gene (which confers hereditary breast and ovarian cancer susceptibility).